Variant report

Variant	rs11068278
Chromosome Location	chr12:117426116-117426117
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:117426012-117426370	SH-SY5Y	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000257279	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10850749	0.92[ASN][1000 genomes]
rs11068233	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11068265	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068267	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068268	0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068275	0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11068279	0.86[CHB][hapmap];1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068285	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068288	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068304	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11068305	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12227740	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12228058	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12230860	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12297748	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12313807	0.92[ASN][1000 genomes]
rs12313968	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12318749	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17582998	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17583110	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28454853	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825101	1.00[JPT][hapmap]
rs57066310	0.92[ASN][1000 genomes]
rs57212223	0.92[ASN][1000 genomes]
rs58547422	0.92[ASN][1000 genomes]
rs59143111	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60601556	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72487544	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117384600-117427400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:117384800-117450400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr12:117387800-117463600	Weak transcription	HMEC	breast
4	chr12:117393800-117471000	Weak transcription	Small Intestine	intestine
5	chr12:117397000-117429200	Weak transcription	Right Ventricle	heart
6	chr12:117397000-117442400	Weak transcription	Colonic Mucosa	Colon
7	chr12:117404600-117427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:117404600-117442400	Weak transcription	HepG2	liver
9	chr12:117404800-117426400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:117405600-117442400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr12:117408000-117427600	Weak transcription	Dnd41	blood
12	chr12:117408200-117426400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:117408200-117427000	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr12:117408200-117429600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:117408200-117442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr12:117408400-117432600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr12:117408400-117452200	Weak transcription	Thymus	Thymus
18	chr12:117409000-117427200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:117411600-117426800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:117411600-117427200	Weak transcription	Fetal Kidney	kidney
21	chr12:117411600-117427600	Weak transcription	A549	lung
22	chr12:117411600-117434000	Weak transcription	Brain Angular Gyrus	brain
23	chr12:117411600-117451800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:117411800-117429200	Weak transcription	Hela-S3	cervix
25	chr12:117412000-117426200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:117412000-117426800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:117412000-117427000	Weak transcription	Pancreas	Pancrea
28	chr12:117412000-117427600	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr12:117412000-117427600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:117412000-117432400	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr12:117412200-117432600	Weak transcription	Spleen	Spleen
32	chr12:117412200-117440000	Weak transcription	Esophagus	oesophagus
33	chr12:117416200-117426200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr12:117416200-117427000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr12:117417200-117452400	Weak transcription	Psoas Muscle	Psoas
36	chr12:117417400-117426800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr12:117417400-117453600	Weak transcription	GM12878-XiMat	blood
38	chr12:117418000-117427000	Weak transcription	Fetal Thymus	thymus
39	chr12:117418000-117427800	Weak transcription	HSMM	muscle
40	chr12:117418000-117433800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:117418000-117433800	Weak transcription	Lung	lung
42	chr12:117418400-117426600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:117418400-117427000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:117418400-117441800	Weak transcription	K562	blood
45	chr12:117418400-117442400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:117418400-117444600	Weak transcription	HUVEC	blood vessel
47	chr12:117421000-117433800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:117421200-117427000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:117421200-117427000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:117421200-117429200	Weak transcription	NH-A	brain

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